Abstract
Fabry disease was first discovered in 1898 in a patient with usual spots on his skin. DNA sequencing of a family member decades later showed the patient had an alanine to threonine substitution at position 143 of the lysosomal enzyme alpha-galactosidase A (α-GAL). One hundred and twenty three years since that original discovery, we do not sufficiently understand the ramifications of this mutation. Patients with this mutation present a broad range of symptoms, from very mild effects to severe kidney failure.
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